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Homozygous factor X deficiency associated with familial hypercholesterolemia, mitral valve prolapse, and hypertrophic
A Onat1, D Dursunoğlu, G Aktuğlu
1Department of Cardiology, Cerrahpaşa Medical Faculty, University of Istanbul, Turkey.
Insights
This study examines a family with multiple genetic disorders, including factor X deficiency, familial hypercholesterolemia, and hypertrophic cardiomyopathy. The disorders appeared coincidental rather than genetically linked within the family.
Area of Science:
- Medical Genetics
- Cardiology
- Hematology
Background:
- Investigated a family with a history of multiple genetic disorders.
- Parents were offspring of consanguineous union (two siblings).
Observation:
- Proband presented with factor X deficiency, obstructive hypertrophic cardiomyopathy, and primary hypercholesterolemia.
- Elder sister and parents were heterozygous for factor X deficiency.
- Mother had elevated plasma cholesterol; father had hypercholesterolemia and mitral valve prolapse.
- Twin sister, heterozygous for factor X deficiency, had mitral valve prolapse.
Findings:
- Identified multiple genetic disorders within the family: factor X deficiency, familial hypercholesterolemia, mitral valve prolapse, and hypertrophic cardiomyopathy.
- The proband exhibited a combination of factor X deficiency, hypertrophic cardiomyopathy, and hypercholesterolemia.
- Genetic analysis indicated heterozygous factor X deficiency in parents and elder sister, with the twin sister also being heterozygous and having mitral valve prolapse.
Implications:
- The co-occurrence of these distinct genetic disorders within a single family suggests 'coincidental' inheritance patterns.
- Highlights the importance of comprehensive genetic screening in families with consanguineous history and multiple affected members.
- Further research may elucidate potential shared genetic or environmental factors, despite the apparent coincidental nature of these disorders.
Abstract:
The family investigated showed the presence of multiple genetic disorders among their members. The presumable defective genes were related to coagulation factor X, familial hypercholesterolemia, mitral valve prolapse, and hypertrophic cardiomyopathy. The parents were offspring of two siblings, and their children comprised a nonidentical twin. While the proband demonstrated factor X deficiency, obstructive hypertrophic cardiomyopathy, and primary hypercholesterolemia, her parents and her elder sister were considered heterozygous for factor X. In addition, her mother had elevated plasma cholesterol levels, and her father primary hypercholesterolemia as well as mitral valve prolapse. The twin sister, heterozygous for factor X deficiency, displayed mitral valve prolapse. The clustering of defective genes in this family was considered to represent 'coincidental' occurrences rather than being linked to each other.